This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for PROK2:c.301C>T, p.Arg101Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
71821964	71772813

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.301C>T

PROTEIN CHANGE

p.Arg101Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001274	0.0	0.0	0.0005958	0.0	0.0	7.042e-05	0.0	0.000588

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.974861	Disease causing

DBSNP ID

1 combination linked to PROK2:c.301C>T, p.Arg101Trp

1 disease linked to PROK2:c.301C>T, p.Arg101Trp

Kallmann syndrome

Found any issues with the data on this page? Report this entry.